Chromosome 5Q14.3 deletion syndrome, distal(PVNH5)

MedGen UID:: 442882
•Concept ID:: C2752071
•: Disease or Syndrome

Synonym:	PERIVENTRICULAR NODULAR HETEROTOPIA 5

Monarch Initiative:	MONDO:0013031
OMIM®:	612881

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVPeriventricular nodular heterotopia
- CROGVChromosome 5Q14.3 deletion syndrome, distal
- CROGVHeterotopia, periventricular, associated with chromosome 5P anomalies
- CROGVHeterotopia, periventricular, X-linked dominant
- CROGVPeriventricular heterotopia with microcephaly, autosomal recessive

Abnormality of prenatal development or birth
- Fetal anomaly
  - Congenital Systemic Disorder
    - Abnormality of the nervous system
      - Abnormality of neuronal migration
        Periventricular nodular heterotopia
        Chromosome 5Q14.3 deletion syndrome, distal

Recent clinical studies

Diagnosis

5q14.3 neurocutaneous syndrome: a novel continguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C.

Carr CW, Zimmerman HH, Martin CL, Vikkula M, Byrd AC, Abdul-Rahman OA
Am J Med Genet A 2011 Jul;155A(7):1640-5. Epub 2011 May 27 doi: 10.1002/ajmg.a.34059. PMID: 21626678

See all (1)

Prognosis

Interstitial deletion 5p14.1-p15.2 and 5q14.3-q23.2 in a patient with clubfoot, blepharophimosis, arthrogryposis, and multiple congenital abnormalities.

Balta B, Erdogan M, Ergul AB, Sahin Y, Ozcan A
Am J Med Genet A 2017 Oct;173(10):2798-2802. Epub 2017 Aug 16 doi: 10.1002/ajmg.a.38386. PMID: 28815864

See all (1)

MedGen

National Center for Biotechnology Information

Send to:

Chromosome 5Q14.3 deletion syndrome, distal(PVNH5)

Term Hierarchy

Recent clinical studies

Diagnosis

Prognosis

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Molecular resources

Consumer resources

Reviews

Related information

Recent activity